PAK3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.35130910
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.03927304
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.86189408
4synaptic vesicle exocytosis (GO:0016079)4.77426719
5vocalization behavior (GO:0071625)4.62977915
6behavioral response to nicotine (GO:0035095)4.40045710
7regulation of synaptic vesicle exocytosis (GO:2000300)4.39198572
8protein localization to synapse (GO:0035418)4.36786136
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.30230136
10synaptic vesicle maturation (GO:0016188)4.21413417
11layer formation in cerebral cortex (GO:0021819)4.21000744
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.20777135
13neuron recognition (GO:0008038)4.19225154
14locomotory exploration behavior (GO:0035641)4.03513714
15regulation of glutamate receptor signaling pathway (GO:1900449)4.01561695
16glutamate secretion (GO:0014047)4.00490476
17presynaptic membrane assembly (GO:0097105)3.99313916
18exploration behavior (GO:0035640)3.78385894
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.77366103
20ionotropic glutamate receptor signaling pathway (GO:0035235)3.75470051
21regulation of synaptic vesicle transport (GO:1902803)3.74863307
22neurotransmitter secretion (GO:0007269)3.74322656
23postsynaptic membrane organization (GO:0001941)3.72546095
24axonal fasciculation (GO:0007413)3.70988564
25glutamate receptor signaling pathway (GO:0007215)3.56619774
26presynaptic membrane organization (GO:0097090)3.55391060
27neuronal action potential propagation (GO:0019227)3.54773333
28regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.54118481
29regulation of vesicle fusion (GO:0031338)3.44648440
30neuron-neuron synaptic transmission (GO:0007270)3.39774284
31establishment of mitochondrion localization (GO:0051654)3.39463291
32transmission of nerve impulse (GO:0019226)3.39186538
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.38059891
34regulation of neuronal synaptic plasticity (GO:0048168)3.36471347
35synaptic transmission, glutamatergic (GO:0035249)3.35972735
36positive regulation of synaptic transmission, GABAergic (GO:0032230)3.35745884
37neurotransmitter-gated ion channel clustering (GO:0072578)3.34628671
38innervation (GO:0060384)3.32044071
39gamma-aminobutyric acid signaling pathway (GO:0007214)3.30697668
40proline transport (GO:0015824)3.29177075
41regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.28996610
42synapse assembly (GO:0007416)3.28497508
43dendrite morphogenesis (GO:0048813)3.26106096
44positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.26010875
45neurotransmitter transport (GO:0006836)3.22657354
46positive regulation of synapse assembly (GO:0051965)3.21639228
47membrane depolarization during action potential (GO:0086010)3.19714522
48negative regulation of cytosolic calcium ion concentration (GO:0051481)3.19373601
49pyrimidine nucleobase catabolic process (GO:0006208)3.15973611
50startle response (GO:0001964)3.14959348
51synaptic vesicle docking involved in exocytosis (GO:0016081)3.12438689
52regulation of synapse structural plasticity (GO:0051823)3.12077618
53mechanosensory behavior (GO:0007638)3.10570785
54activation of protein kinase A activity (GO:0034199)3.07340603
55* dendritic spine morphogenesis (GO:0060997)3.06525694
56positive regulation of membrane potential (GO:0045838)3.05941040
57detection of calcium ion (GO:0005513)3.03355992
58regulation of excitatory postsynaptic membrane potential (GO:0060079)3.03210945
59synaptic vesicle endocytosis (GO:0048488)3.02784097
60regulation of postsynaptic membrane potential (GO:0060078)3.02551772
61regulation of respiratory system process (GO:0044065)3.01958536
62neuromuscular synaptic transmission (GO:0007274)2.99888885
63negative regulation of synaptic transmission, GABAergic (GO:0032229)2.97402326
64retinal ganglion cell axon guidance (GO:0031290)2.96107534
65membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.95545291
66organelle transport along microtubule (GO:0072384)2.95448178
67cell migration in hindbrain (GO:0021535)2.95098423
68glycerophospholipid catabolic process (GO:0046475)2.94395436
69long-term synaptic potentiation (GO:0060291)2.94252804
70long-term memory (GO:0007616)2.94244733
71establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.93763869
72mitochondrion transport along microtubule (GO:0047497)2.93763869
73response to auditory stimulus (GO:0010996)2.93532905
74mating behavior (GO:0007617)2.92793739
75central nervous system projection neuron axonogenesis (GO:0021952)2.91714706
76neuronal action potential (GO:0019228)2.91646348
77positive regulation of synapse maturation (GO:0090129)2.90508707
78glycosphingolipid biosynthetic process (GO:0006688)2.89984497
79vesicle transport along microtubule (GO:0047496)2.89907579
80response to histamine (GO:0034776)2.88917927
81regulation of neurotransmitter secretion (GO:0046928)2.88131053
82gamma-aminobutyric acid transport (GO:0015812)2.86853675
83adult walking behavior (GO:0007628)2.86426477
84adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.86180562
85regulation of neurotransmitter levels (GO:0001505)2.85237880
86regulation of synaptic transmission, glutamatergic (GO:0051966)2.84442098
87* synapse organization (GO:0050808)2.82521900
88regulation of dendritic spine morphogenesis (GO:0061001)2.82222573
89central nervous system neuron axonogenesis (GO:0021955)2.81079222
90neurofilament cytoskeleton organization (GO:0060052)2.81058255
91membrane depolarization (GO:0051899)2.79377438
92positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.78657184
93intraspecies interaction between organisms (GO:0051703)2.77792959
94social behavior (GO:0035176)2.77792959
95behavioral defense response (GO:0002209)2.77299947
96behavioral fear response (GO:0001662)2.77299947
97urinary tract smooth muscle contraction (GO:0014848)2.76928759
98regulation of synaptic transmission, GABAergic (GO:0032228)2.76798290
99synaptic vesicle transport (GO:0048489)2.76306190
100establishment of synaptic vesicle localization (GO:0097480)2.76306190
101positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.74561789
102membrane hyperpolarization (GO:0060081)2.73534058
103serotonin metabolic process (GO:0042428)2.73037379
104regulation of synapse assembly (GO:0051963)2.72666298
105fear response (GO:0042596)2.72567999
106regulation of synaptic plasticity (GO:0048167)2.71370972
107positive regulation of dendritic spine morphogenesis (GO:0061003)2.70771570
108regulation of respiratory gaseous exchange (GO:0043576)2.68702947
109G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.68696924
110learning (GO:0007612)2.68551051
111establishment of vesicle localization (GO:0051650)2.68533726
112regulation of calcium ion-dependent exocytosis (GO:0017158)2.67582944
113cerebellar Purkinje cell differentiation (GO:0021702)2.67367222
114auditory behavior (GO:0031223)2.67256291
115negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.66830907
116regulation of cAMP-dependent protein kinase activity (GO:2000479)2.66534812
117synaptic transmission, cholinergic (GO:0007271)2.66497739
118nucleobase catabolic process (GO:0046113)2.65582535
119* dendrite development (GO:0016358)2.65269605
120adult behavior (GO:0030534)2.65052746
121regulation of neurotransmitter transport (GO:0051588)2.63837474
122neuronal ion channel clustering (GO:0045161)2.63218369
123cerebellar Purkinje cell layer development (GO:0021680)2.62931946
124protein localization to cilium (GO:0061512)2.62316644
125regulation of action potential (GO:0098900)2.61653039
126atrial cardiac muscle cell action potential (GO:0086014)2.60319000
127cerebral cortex radially oriented cell migration (GO:0021799)2.60276542
128negative regulation of axon extension (GO:0030517)2.59278829
129response to amphetamine (GO:0001975)2.59149051
130nonmotile primary cilium assembly (GO:0035058)2.56873560

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.53603303
2GBX2_23144817_ChIP-Seq_PC3_Human3.74216028
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.94171263
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.91705756
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.76767879
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.66098174
7REST_21632747_ChIP-Seq_MESCs_Mouse2.52693473
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.48478468
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.43972402
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.40603680
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.40603680
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.40132669
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.38696608
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.32090936
15TAF15_26573619_Chip-Seq_HEK293_Human2.28780220
16NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.27590701
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.26075940
18MTF2_20144788_ChIP-Seq_MESCs_Mouse2.25729112
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.22673407
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.17137869
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.16559278
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.15170726
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.04844883
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.01643675
25ZFP57_27257070_Chip-Seq_ESCs_Mouse2.00187418
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.99856276
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94621323
28AR_21572438_ChIP-Seq_LNCaP_Human1.86806108
29DROSHA_22980978_ChIP-Seq_HELA_Human1.86432729
30BMI1_23680149_ChIP-Seq_NPCS_Mouse1.83487493
31ZNF274_21170338_ChIP-Seq_K562_Hela1.79149373
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.78991010
33CBX2_27304074_Chip-Seq_ESCs_Mouse1.78848913
34IGF1R_20145208_ChIP-Seq_DFB_Human1.77034493
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75868988
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74346994
37* SMAD4_21799915_ChIP-Seq_A2780_Human1.72816528
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71832837
39P300_19829295_ChIP-Seq_ESCs_Human1.68005162
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.63234038
41RNF2_27304074_Chip-Seq_NSC_Mouse1.52388769
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.50931988
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50295017
44OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49023606
45* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48235296
46TOP2B_26459242_ChIP-Seq_MCF-7_Human1.48018542
47IKZF1_21737484_ChIP-ChIP_HCT116_Human1.47792109
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.47721575
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47628352
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44025506
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43982459
52* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43905687
53FUS_26573619_Chip-Seq_HEK293_Human1.43760420
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43021295
55VDR_22108803_ChIP-Seq_LS180_Human1.37666972
56HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36404336
57* SOX2_21211035_ChIP-Seq_LN229_Gbm1.31171504
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.31051941
59AR_25329375_ChIP-Seq_VCAP_Human1.30659570
60EWS_26573619_Chip-Seq_HEK293_Human1.29327434
61STAT3_23295773_ChIP-Seq_U87_Human1.27773272
62RING1B_27294783_Chip-Seq_ESCs_Mouse1.24224180
63CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22515157
64AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21456143
65RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.21178446
66FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.20219543
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.16279048
68MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.16142004
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15555535
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13812579
71BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.13515204
72ER_23166858_ChIP-Seq_MCF-7_Human1.13504737
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.13466491
74* RUNX2_22187159_ChIP-Seq_PCA_Human1.13354912
75IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12556256
76CBP_20019798_ChIP-Seq_JUKART_Human1.12556256
77SALL1_21062744_ChIP-ChIP_HESCs_Human1.12191000
78KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.11857096
79UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11297453
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.10702138
81TCF4_23295773_ChIP-Seq_U87_Human1.09239022
82RING1B_27294783_Chip-Seq_NPCs_Mouse1.09150121
83FLI1_27457419_Chip-Seq_LIVER_Mouse1.09097140
84AR_19668381_ChIP-Seq_PC3_Human1.07148409
85TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06926635
86NANOG_18555785_Chip-Seq_ESCs_Mouse1.06735324
87P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04918252
88AHR_22903824_ChIP-Seq_MCF-7_Human1.04293062
89ERG_21242973_ChIP-ChIP_JURKAT_Human1.04162729
90MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.03801440
91BCAT_22108803_ChIP-Seq_LS180_Human1.02756174
92P53_22387025_ChIP-Seq_ESCs_Mouse1.02456753
93TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02313448
94NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01324658
95TP53_18474530_ChIP-ChIP_U2OS_Human1.00261302
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99957488
97JUN_21703547_ChIP-Seq_K562_Human0.99948612
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99452372
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99452372
100RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98685437
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98047265
102SMAD3_21741376_ChIP-Seq_ESCs_Human0.97812204
103TAL1_26923725_Chip-Seq_HPCs_Mouse0.97596974
104TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97485037
105EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96941823
106PCGF2_27294783_Chip-Seq_ESCs_Mouse0.96516983
107STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.96483266
108PRDM14_20953172_ChIP-Seq_ESCs_Human0.95446199
109WT1_25993318_ChIP-Seq_PODOCYTE_Human0.94477602
110GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.94315025
111CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.91588444
112* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90994798
113EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90023580
114FLI1_21867929_ChIP-Seq_TH2_Mouse0.88812726
115KDM2B_26808549_Chip-Seq_REH_Human0.87998701
116OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.86660416

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.61863419
2MP0004859_abnormal_synaptic_plasticity4.47497275
3MP0004270_analgesia3.38188682
4* MP0003635_abnormal_synaptic_transmissio3.36766362
5* MP0002063_abnormal_learning/memory/cond2.76502443
6MP0009745_abnormal_behavioral_response2.75884512
7MP0005423_abnormal_somatic_nervous2.61313656
8MP0002064_seizures2.60364859
9MP0002734_abnormal_mechanical_nocicepti2.52294978
10MP0002572_abnormal_emotion/affect_behav2.51675790
11MP0006276_abnormal_autonomic_nervous2.50452987
12MP0009046_muscle_twitch2.49008521
13MP0001968_abnormal_touch/_nociception2.47779391
14MP0002272_abnormal_nervous_system2.29984201
15MP0001486_abnormal_startle_reflex2.22783286
16MP0000778_abnormal_nervous_system2.22333427
17MP0005645_abnormal_hypothalamus_physiol2.18761186
18MP0009780_abnormal_chondrocyte_physiolo2.14333437
19MP0003122_maternal_imprinting2.14145045
20MP0002184_abnormal_innervation2.08975457
21MP0001529_abnormal_vocalization2.07900858
22MP0001440_abnormal_grooming_behavior2.03889063
23MP0001501_abnormal_sleep_pattern2.02004652
24MP0002909_abnormal_adrenal_gland1.99437780
25MP0001984_abnormal_olfaction1.98956342
26MP0002735_abnormal_chemical_nociception1.98232094
27MP0002733_abnormal_thermal_nociception1.96988160
28MP0005646_abnormal_pituitary_gland1.95001892
29MP0008877_abnormal_DNA_methylation1.91537564
30MP0002557_abnormal_social/conspecific_i1.87023010
31MP0002067_abnormal_sensory_capabilities1.85494538
32MP0002736_abnormal_nociception_after1.83277231
33MP0001970_abnormal_pain_threshold1.79664057
34MP0006072_abnormal_retinal_apoptosis1.75980068
35MP0004924_abnormal_behavior1.72765284
36MP0005386_behavior/neurological_phenoty1.72765284
37MP0010386_abnormal_urinary_bladder1.69952404
38MP0001188_hyperpigmentation1.66564973
39MP0000013_abnormal_adipose_tissue1.64388529
40MP0000955_abnormal_spinal_cord1.58991069
41MP0002822_catalepsy1.54193423
42MP0002837_dystrophic_cardiac_calcinosis1.52497271
43MP0004811_abnormal_neuron_physiology1.51717833
44MP0003787_abnormal_imprinting1.48586260
45MP0002882_abnormal_neuron_morphology1.46952408
46MP0000631_abnormal_neuroendocrine_gland1.46250663
47MP0003329_amyloid_beta_deposits1.45318796
48MP0003283_abnormal_digestive_organ1.45037113
49MP0001502_abnormal_circadian_rhythm1.43566326
50MP0001905_abnormal_dopamine_level1.42001955
51MP0005551_abnormal_eye_electrophysiolog1.41621677
52MP0004133_heterotaxia1.41575244
53MP0000569_abnormal_digit_pigmentation1.40305866
54MP0003879_abnormal_hair_cell1.32053073
55MP0002066_abnormal_motor_capabilities/c1.28086552
56MP0008569_lethality_at_weaning1.27318050
57MP0004142_abnormal_muscle_tone1.27181912
58MP0002638_abnormal_pupillary_reflex1.24090511
59MP0005379_endocrine/exocrine_gland_phen1.15787180
60MP0004885_abnormal_endolymph1.15442822
61MP0003123_paternal_imprinting1.15335618
62MP0004742_abnormal_vestibular_system1.14054426
63MP0004858_abnormal_nervous_system1.13943486
64MP0005499_abnormal_olfactory_system1.13089145
65MP0005394_taste/olfaction_phenotype1.13089145
66MP0002152_abnormal_brain_morphology1.12154157
67MP0002229_neurodegeneration1.03183340
68MP0002752_abnormal_somatic_nervous1.00017687
69MP0003634_abnormal_glial_cell0.98946849
70MP0006292_abnormal_olfactory_placode0.97382605
71MP0003890_abnormal_embryonic-extraembry0.94998410
72MP0005253_abnormal_eye_physiology0.94994525
73MP0002069_abnormal_eating/drinking_beha0.92662871
74MP0001963_abnormal_hearing_physiology0.92582152
75MP0004043_abnormal_pH_regulation0.92468390
76MP0002751_abnormal_autonomic_nervous0.92341090
77MP0001299_abnormal_eye_distance/0.91764610
78MP0008872_abnormal_physiological_respon0.90333019
79MP0003633_abnormal_nervous_system0.89324616
80MP0002090_abnormal_vision0.89041938
81MP0003195_calcinosis0.88587807
82MP0005409_darkened_coat_color0.88502320
83MP0008789_abnormal_olfactory_epithelium0.86938591
84MP0002653_abnormal_ependyma_morphology0.86894872
85MP0004145_abnormal_muscle_electrophysio0.86879551
86MP0003121_genomic_imprinting0.86668139
87MP0002876_abnormal_thyroid_physiology0.85656159
88MP0003183_abnormal_peptide_metabolism0.84726317
89MP0002234_abnormal_pharynx_morphology0.81307076
90MP0003011_delayed_dark_adaptation0.81265495
91MP0009379_abnormal_foot_pigmentation0.80762086
92MP0000566_synostosis0.80342489
93MP0001986_abnormal_taste_sensitivity0.79604136
94MP0002938_white_spotting0.79578825
95MP0003631_nervous_system_phenotype0.78376689
96MP0001485_abnormal_pinna_reflex0.78151861
97MP0000026_abnormal_inner_ear0.76985171
98MP0004085_abnormal_heartbeat0.76867359
99MP0001944_abnormal_pancreas_morphology0.76240099
100MP0000751_myopathy0.74356981
101MP0005535_abnormal_body_temperature0.74255515
102MP0001177_atelectasis0.73437633
103MP0003861_abnormal_nervous_system0.73362923
104MP0002928_abnormal_bile_duct0.72921302
105MP0002163_abnormal_gland_morphology0.69856914
106MP0002693_abnormal_pancreas_physiology0.69164007
107MP0003137_abnormal_impulse_conducting0.67904567
108MP0001664_abnormal_digestion0.67669672
109MP0003119_abnormal_digestive_system0.66894968
110MP0001943_abnormal_respiration0.61639815
111MP0005187_abnormal_penis_morphology0.61630632
112MP0005195_abnormal_posterior_eye0.60899458
113MP0000462_abnormal_digestive_system0.60347010
114MP0003632_abnormal_nervous_system0.59729363
115MP0002102_abnormal_ear_morphology0.56423385

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.52141105
2Myokymia (HP:0002411)4.56436116
3Visual hallucinations (HP:0002367)4.42606097
4Focal seizures (HP:0007359)4.35101398
5Atonic seizures (HP:0010819)4.25662862
6Epileptic encephalopathy (HP:0200134)4.14394208
7Absence seizures (HP:0002121)3.78948932
8Limb dystonia (HP:0002451)3.58861030
9Progressive cerebellar ataxia (HP:0002073)3.50025082
10Febrile seizures (HP:0002373)3.48868756
11Dialeptic seizures (HP:0011146)3.31840132
12Hyperventilation (HP:0002883)3.26983463
13Supranuclear gaze palsy (HP:0000605)3.25572012
14Generalized tonic-clonic seizures (HP:0002069)3.21941430
15Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.14382621
16Pheochromocytoma (HP:0002666)3.09630352
17Gait imbalance (HP:0002141)3.00909425
18Broad-based gait (HP:0002136)2.99637581
19Epileptiform EEG discharges (HP:0011182)2.92481125
20Molar tooth sign on MRI (HP:0002419)2.90329896
21Abnormality of midbrain morphology (HP:0002418)2.90329896
22EEG with generalized epileptiform discharges (HP:0011198)2.89384245
23Progressive inability to walk (HP:0002505)2.82150928
24Nephronophthisis (HP:0000090)2.81758568
25* Excessive salivation (HP:0003781)2.80566947
26* Drooling (HP:0002307)2.80566947
27Neurofibrillary tangles (HP:0002185)2.79052049
28Pancreatic fibrosis (HP:0100732)2.75538660
29Ankle clonus (HP:0011448)2.74350879
30Hypsarrhythmia (HP:0002521)2.72566981
31Polyphagia (HP:0002591)2.71175423
32Cerebral inclusion bodies (HP:0100314)2.69866140
33Abnormality of the labia minora (HP:0012880)2.69599977
34Truncal ataxia (HP:0002078)2.69348636
35Mutism (HP:0002300)2.67614164
36Amblyopia (HP:0000646)2.65621468
37Neuroendocrine neoplasm (HP:0100634)2.65401798
38Pancreatic cysts (HP:0001737)2.58492365
39Pachygyria (HP:0001302)2.54863477
40Abnormal eating behavior (HP:0100738)2.52505056
41True hermaphroditism (HP:0010459)2.52179105
42Abnormality of the corticospinal tract (HP:0002492)2.51198221
43Depression (HP:0000716)2.50049440
44Hypothermia (HP:0002045)2.49937987
45Papilledema (HP:0001085)2.49712157
46Medial flaring of the eyebrow (HP:0010747)2.45191766
47Congenital primary aphakia (HP:0007707)2.37455995
48Spastic gait (HP:0002064)2.37014250
49Hemiparesis (HP:0001269)2.35867142
50Megalencephaly (HP:0001355)2.34282349
51Absent speech (HP:0001344)2.33708369
52* Anxiety (HP:0000739)2.33212560
53Akinesia (HP:0002304)2.30123146
54Hepatoblastoma (HP:0002884)2.30111024
55Action tremor (HP:0002345)2.28820772
56Intestinal atresia (HP:0011100)2.28087839
57Insidious onset (HP:0003587)2.23513202
58Termporal pattern (HP:0011008)2.23513202
59Abnormality of the renal medulla (HP:0100957)2.22506449
60Abnormality of calcium-phosphate metabolism (HP:0100530)2.20902469
61Failure to thrive in infancy (HP:0001531)2.17715692
62Impaired vibration sensation in the lower limbs (HP:0002166)2.17017677
63Nephrogenic diabetes insipidus (HP:0009806)2.15413494
64Congenital stationary night blindness (HP:0007642)2.15368732
65Hyperthyroidism (HP:0000836)2.14747833
66Genital tract atresia (HP:0001827)2.14607324
67Sleep apnea (HP:0010535)2.14598400
68Dysdiadochokinesis (HP:0002075)2.14068246
69Dysmetria (HP:0001310)2.13550148
70Spastic tetraplegia (HP:0002510)2.13243563
71Oligodactyly (hands) (HP:0001180)2.10598454
72Hypoventilation (HP:0002791)2.10298580
73Vaginal atresia (HP:0000148)2.09803395
74Muscular hypotonia of the trunk (HP:0008936)2.08824158
75Specific learning disability (HP:0001328)2.08499787
76Poor eye contact (HP:0000817)2.07943353
77Degeneration of the lateral corticospinal tracts (HP:0002314)2.07110219
78Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.07110219
79Urinary bladder sphincter dysfunction (HP:0002839)2.05505208
80Retinal dysplasia (HP:0007973)2.04756751
81Chronic hepatic failure (HP:0100626)2.03858683
82Protruding tongue (HP:0010808)2.02044236
83Blue irides (HP:0000635)2.01993598
84Amyotrophic lateral sclerosis (HP:0007354)2.01111976
85Status epilepticus (HP:0002133)1.99980379
86Inability to walk (HP:0002540)1.98855006
87* Agitation (HP:0000713)1.98708017
88Aplasia/Hypoplasia of the brainstem (HP:0007362)1.98407763
89Hypoplasia of the brainstem (HP:0002365)1.98407763
90Urinary urgency (HP:0000012)1.97089960
91Fetal akinesia sequence (HP:0001989)1.95369553
92Poor suck (HP:0002033)1.94272695
93Lower limb muscle weakness (HP:0007340)1.93342305
94Torticollis (HP:0000473)1.93124441
95Gaze-evoked nystagmus (HP:0000640)1.91641857
96Exotropia (HP:0000577)1.91172937
97Optic nerve hypoplasia (HP:0000609)1.91049336
98Abnormal ciliary motility (HP:0012262)1.89064090
99Lissencephaly (HP:0001339)1.87125329
100Generalized myoclonic seizures (HP:0002123)1.87104481
101Impaired social interactions (HP:0000735)1.86849853
102Abnormal social behavior (HP:0012433)1.86849853
103* Abnormality of salivation (HP:0100755)1.86755214
104Narrow forehead (HP:0000341)1.86233364
105Scanning speech (HP:0002168)1.85788100
106Diplopia (HP:0000651)1.85667784
107Abnormality of binocular vision (HP:0011514)1.85667784
108Esotropia (HP:0000565)1.85209452
109Genetic anticipation (HP:0003743)1.85101182
110Prolonged QT interval (HP:0001657)1.83197213
111Postural tremor (HP:0002174)1.82439535
112Aplasia/Hypoplasia of the lens (HP:0008063)1.78987777
113Sporadic (HP:0003745)1.78343255
114Abnormal hair whorl (HP:0010721)1.77458088
115Focal dystonia (HP:0004373)1.77303930
116Central scotoma (HP:0000603)1.72627302
117Labial hypoplasia (HP:0000066)1.72171799
118Postaxial hand polydactyly (HP:0001162)1.71933791
119Shoulder girdle muscle weakness (HP:0003547)1.70272319
120Inappropriate behavior (HP:0000719)1.70112422
121Intention tremor (HP:0002080)1.69280220
122Poor coordination (HP:0002370)1.69085240
123Pendular nystagmus (HP:0012043)1.68363938
124Morphological abnormality of the pyramidal tract (HP:0002062)1.68217994
125Aqueductal stenosis (HP:0002410)1.67952131
126Cystic liver disease (HP:0006706)1.67895905
127Type II lissencephaly (HP:0007260)1.67888653
128Abnormal drinking behavior (HP:0030082)1.67841759
129Polydipsia (HP:0001959)1.67841759
130Abnormal respiratory motile cilium physiology (HP:0012261)1.67808417
131Ketoacidosis (HP:0001993)1.67269468
132Dynein arm defect of respiratory motile cilia (HP:0012255)1.66533840
133Progressive macrocephaly (HP:0004481)1.66271061

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.83162631
2NTRK34.10278795
3MAP3K42.96687433
4MAP3K92.93514603
5CASK2.90251590
6MAP2K72.62175693
7EPHA42.61358922
8MINK12.47184567
9NTRK22.24241296
10PINK12.11963341
11PNCK2.09063987
12MAP3K122.03323284
13MAPK131.93442785
14TNIK1.91983100
15MAP4K21.90932134
16PAK61.77857474
17NTRK11.77829646
18UHMK11.76291868
19WNK31.74784272
20PLK21.57552784
21MAP2K41.57487681
22KSR11.50030155
23PHKG21.45153133
24PHKG11.45153133
25CDK51.42884459
26MAP3K21.41950574
27EPHA31.33571398
28GRK51.33019048
29INSRR1.28570929
30BCR1.28306747
31GRK11.26397456
32WNK41.26091179
33CDK191.22244044
34DYRK21.21359538
35MAPK151.21240437
36KSR21.21042056
37DAPK21.19932353
38PRKCG1.18544504
39ERBB31.18478943
40SIK21.16859574
41CSNK1G21.16644205
42CAMK2A1.12065723
43NME11.06333418
44OXSR11.04709212
45DYRK1A1.02728837
46PRKD31.00069193
47PRPF4B0.97540946
48CAMK2B0.96775499
49ARAF0.96463904
50BMPR1B0.95352055
51CDK140.90424164
52SGK4940.88582010
53SGK2230.88582010
54TRIM280.86116616
55GRK70.84479364
56PRKCE0.82644858
57CAMKK20.82494163
58CDK180.82186528
59DAPK10.81673508
60CSNK1G30.79598054
61CAMKK10.78941929
62CDK150.78092638
63MARK20.77587083
64FER0.77367459
65CAMK2D0.76288877
66LATS20.75179526
67STK390.74200137
68LIMK10.72733679
69FES0.72477520
70FRK0.67838390
71HIPK20.67716723
72PKN10.67541563
73CDK11A0.66681515
74STK110.66604185
75AKT30.64689487
76RPS6KA20.64467133
77RET0.61761829
78TYRO30.61681404
79BMPR20.61249124
80RIPK40.60611944
81WNK10.60578030
82EPHB20.60018862
83SGK10.59656911
84MKNK20.57995918
85SGK20.57680249
86PRKCZ0.56213932
87ADRBK10.55446890
88FGFR20.54111786
89CSNK1A1L0.52467538
90CDC42BPA0.51373572
91CSNK1G10.50296304
92PRKCH0.49885026
93BRAF0.49217140
94SCYL20.48847388
95CSNK1D0.47752567
96CAMK10.46143372
97SGK30.45734190
98FGR0.45354490
99CSNK1E0.44450370
100PRKAA10.43009010
101ADRBK20.42436727
102CAMK40.42314907
103CSNK1A10.42061887
104TAOK10.42049441
105RPS6KA30.42042565
106STK380.41959453
107CAMK2G0.41910244
108* PAK30.41757100
109PRKACA0.40069252
110CAMK1G0.39666125
111FYN0.39355907
112MAP3K10.38836480
113PRKG10.38065209
114MAPK100.37429504
115STK38L0.36970206
116PRKACB0.36075898
117SIK30.35886877
118DYRK30.34342260
119ERBB20.33249378
120NUAK10.32360761
121PRKCA0.31314150
122PRKCB0.28747299
123TLK10.27904471
124MAPKAPK50.25862415

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.67352539
2Synaptic vesicle cycle_Homo sapiens_hsa047213.11533644
3GABAergic synapse_Homo sapiens_hsa047272.75400494
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63170326
5Circadian entrainment_Homo sapiens_hsa047132.48803661
6Amphetamine addiction_Homo sapiens_hsa050312.42222037
7Morphine addiction_Homo sapiens_hsa050322.36878551
8Insulin secretion_Homo sapiens_hsa049112.32073769
9Dopaminergic synapse_Homo sapiens_hsa047282.28353068
10Olfactory transduction_Homo sapiens_hsa047402.26964118
11Long-term potentiation_Homo sapiens_hsa047202.26793746
12Glutamatergic synapse_Homo sapiens_hsa047242.26007278
13Serotonergic synapse_Homo sapiens_hsa047262.10515183
14Cocaine addiction_Homo sapiens_hsa050302.04267038
15Taste transduction_Homo sapiens_hsa047421.98959273
16Collecting duct acid secretion_Homo sapiens_hsa049661.94822025
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.90622674
18Cholinergic synapse_Homo sapiens_hsa047251.90377031
19Vibrio cholerae infection_Homo sapiens_hsa051101.75380661
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.75208258
21Renin secretion_Homo sapiens_hsa049241.71483792
22Salivary secretion_Homo sapiens_hsa049701.67921314
23Long-term depression_Homo sapiens_hsa047301.65514909
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.53051259
25Oxidative phosphorylation_Homo sapiens_hsa001901.47372595
26Gastric acid secretion_Homo sapiens_hsa049711.45809599
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.37916926
28* Axon guidance_Homo sapiens_hsa043601.37339535
29Oxytocin signaling pathway_Homo sapiens_hsa049211.37292921
30Phototransduction_Homo sapiens_hsa047441.34450774
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.34043385
32Gap junction_Homo sapiens_hsa045401.31936061
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.29521365
34Calcium signaling pathway_Homo sapiens_hsa040201.26996280
35Type II diabetes mellitus_Homo sapiens_hsa049301.23280009
36Alzheimers disease_Homo sapiens_hsa050101.22939798
37GnRH signaling pathway_Homo sapiens_hsa049121.21693811
38Cardiac muscle contraction_Homo sapiens_hsa042601.20117439
39Estrogen signaling pathway_Homo sapiens_hsa049151.16548318
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13811824
41Parkinsons disease_Homo sapiens_hsa050121.11880149
42cAMP signaling pathway_Homo sapiens_hsa040241.07185273
43Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.06035361
44Ether lipid metabolism_Homo sapiens_hsa005651.04322772
45Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.02931527
46Melanogenesis_Homo sapiens_hsa049161.00589121
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98031235
48Linoleic acid metabolism_Homo sapiens_hsa005910.93974087
49Regulation of autophagy_Homo sapiens_hsa041400.93794116
50Protein export_Homo sapiens_hsa030600.92513275
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89952989
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89361226
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.88358087
54Alcoholism_Homo sapiens_hsa050340.88287214
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.88169123
56Type I diabetes mellitus_Homo sapiens_hsa049400.87296236
57Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.87001117
58* ErbB signaling pathway_Homo sapiens_hsa040120.86335455
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.85842190
60Glioma_Homo sapiens_hsa052140.84403104
61Nitrogen metabolism_Homo sapiens_hsa009100.79311670
62Pancreatic secretion_Homo sapiens_hsa049720.76522278
63Huntingtons disease_Homo sapiens_hsa050160.76044549
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75912393
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.73890549
66Thyroid hormone synthesis_Homo sapiens_hsa049180.73199692
67Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72894953
68Oocyte meiosis_Homo sapiens_hsa041140.69277794
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.69132601
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68545411
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.67482233
72Dorso-ventral axis formation_Homo sapiens_hsa043200.67170647
73Circadian rhythm_Homo sapiens_hsa047100.65997728
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65526340
75Steroid biosynthesis_Homo sapiens_hsa001000.63129904
76Glucagon signaling pathway_Homo sapiens_hsa049220.62647015
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60486819
78MAPK signaling pathway_Homo sapiens_hsa040100.60177124
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60104499
80Dilated cardiomyopathy_Homo sapiens_hsa054140.59680283
81Prion diseases_Homo sapiens_hsa050200.59483936
82Choline metabolism in cancer_Homo sapiens_hsa052310.58107891
83Wnt signaling pathway_Homo sapiens_hsa043100.57307001
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56841847
85* Ras signaling pathway_Homo sapiens_hsa040140.55912354
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.55182819
87Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54783385
88Tryptophan metabolism_Homo sapiens_hsa003800.52759889
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52215588
90Ovarian steroidogenesis_Homo sapiens_hsa049130.50822515
91Butanoate metabolism_Homo sapiens_hsa006500.48454578
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48444361
93* Renal cell carcinoma_Homo sapiens_hsa052110.47000919
94Selenocompound metabolism_Homo sapiens_hsa004500.46049794
95Sphingolipid signaling pathway_Homo sapiens_hsa040710.44943754
96Sulfur metabolism_Homo sapiens_hsa009200.44637890
97Endometrial cancer_Homo sapiens_hsa052130.43704114
98Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.43489118
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.42596506
100Hippo signaling pathway_Homo sapiens_hsa043900.42504535
101Hedgehog signaling pathway_Homo sapiens_hsa043400.41909968
102Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41645378
103Bile secretion_Homo sapiens_hsa049760.41401812
104Rheumatoid arthritis_Homo sapiens_hsa053230.41015917
105ABC transporters_Homo sapiens_hsa020100.39920085
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39413778
107beta-Alanine metabolism_Homo sapiens_hsa004100.38707699
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38685114
109Peroxisome_Homo sapiens_hsa041460.38662624
110Phagosome_Homo sapiens_hsa041450.38615604
111Insulin signaling pathway_Homo sapiens_hsa049100.38358381
112Colorectal cancer_Homo sapiens_hsa052100.37325208
113Vitamin B6 metabolism_Homo sapiens_hsa007500.36797645
114Basal cell carcinoma_Homo sapiens_hsa052170.36301800
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.34529708
116Rap1 signaling pathway_Homo sapiens_hsa040150.33881207
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33410161
118Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.33003035
119Endocytosis_Homo sapiens_hsa041440.32535087
120Folate biosynthesis_Homo sapiens_hsa007900.32360051
121VEGF signaling pathway_Homo sapiens_hsa043700.31985843
122N-Glycan biosynthesis_Homo sapiens_hsa005100.31732328
123Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31091729

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